Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A. R., Slavotinek, A., Voermans, N. C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K. J., Jayakar, P., Gahl, W. A., Tifft, C. J., Figuera, L. E., Hilhorst-Hofstee, Y., Maugeri, A., Ishikawa, K., Kobayashi, T., Aoki, Y., Ohura, T., Kawame, H., Kono, M., Mochida, K., Tokorodani, C., Kikkawa, K., Morisaki, T., Kobayashi, T., Nakane, T., Kubo, A., Ranells, J. D., Migita, O., Sobey, G., Kaur, A., Ishikawa, M., Yamaguchi, T., Matsumoto, N., Malfait, F., Miyake, N., & Kosho, T. (2022). clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics, 59(9), 865–877. http://access.bl.uk/ark:/81055/vdc_100161979828.0x000031